Canonical Allele Identifier: CA595495061

Gene: PDZD7

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101015730dup , CM000672.2:g.101015730dup	GRCh38
NC_000010.10:g.102775487dup , CM000672.1:g.102775487dup	GRCh37
NC_000010.9:g.102765477dup	NCBI36
NG_028030.1:g.20428dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001195263.2:c.1655dup MANE Select	NP_001182192.1:p.Ala553GlyfsTer19
ENST00000619208.6:c.1655dup MANE Select	ENSP00000480489.1:p.Ala553GlyfsTer19
NM_001195263.1:c.1655dup	NP_001182192.1:p.Ala553GlyfsTer19
ENST00000433616.5:c.379dup
ENST00000474125.6:c.*1700+2369dup	ENSP00000474447.1:n.*1700+2369dup
ENST00000474125.7:c.*1700+2369dup	ENSP00000474447.1:n.*1700+2369dup
ENST00000619208.4:c.1655dup	ENSP00000480489.1:p.Ala553GlyfsTer19
ENST00000644782.1:c.1522+2369dup	ENSP00000496747.1:n.1522+2369dup
XM_005270165.1:c.1522+2369dup	XP_005270222.1:n.1522+2369dup
XM_005270165.3:c.1522+2369dup	XP_005270222.1:n.1522+2369dup
XM_011540177.1:c.1655dup	XP_011538479.1:p.Ala553GlyfsTer19
XM_011540177.3:c.1655dup	XP_011538479.1:p.Ala553GlyfsTer19
XM_011540178.1:c.1652dup	XP_011538480.1:p.Ala552GlyfsTer19
XM_011540178.3:c.1652dup	XP_011538480.1:p.Ala552GlyfsTer19
XM_011540179.1:c.1655dup	XP_011538481.1:p.Ala553GlyfsTer19
XM_011540179.3:c.1655dup	XP_011538481.1:p.Ala553GlyfsTer19
XM_011540180.1:c.1606dup	XP_011538482.1:p.Arg536LysfsTer?
XM_011540181.1:c.1578dup	XP_011538483.1:p.Gly527ArgfsTer18
XM_011540181.3:c.1578dup	XP_011538483.1:p.Gly527ArgfsTer18
XM_011540183.1:c.*81dup	XP_011538485.1:n.*81dup
XM_011540183.3:c.*81dup	XP_011538485.1:n.*81dup
XR_945816.1:n.1798+2369dup
XR_945816.3:n.1788+2369dup